A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421335



Internal ID200412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86448542..86496542hg38UCSC Ensembl
chrX:85703545..85751545hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg3848001
hg1948001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741221
Samples
Known GenesDACH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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